Variant report

Variant	rs73419457
Chromosome Location	chr6:37865789-37865790
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37863569..37866168-chr6:37867163..37869619,2	K562	blood:
2	chr6:37829312..37832098-chr6:37865008..37867935,3	MCF-7	breast:

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs1041037	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11750950	0.81[EUR][1000 genomes]
rs11751706	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752623	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752650	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752692	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752863	0.90[EUR][1000 genomes]
rs11753118	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753122	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753267	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753388	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11754247	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11754248	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11754590	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11754816	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11754980	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11755439	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11755559	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11755894	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11756030	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756626	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11757359	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758035	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758540	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759205	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11759475	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11759486	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759574	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759721	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12661480	0.81[EUR][1000 genomes]
rs35142414	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55707043	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55743233	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55786703	0.81[EUR][1000 genomes]
rs55786741	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55811006	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55825770	1.00[ASN][1000 genomes]
rs55836194	1.00[ASN][1000 genomes]
rs55837436	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55878533	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55972258	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55990078	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56073681	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56106114	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56159928	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56229452	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56308246	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56366053	1.00[ASN][1000 genomes]
rs56413211	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57040650	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57180729	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57269218	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57564251	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57591988	0.87[EUR][1000 genomes]
rs59450336	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59996041	0.84[EUR][1000 genomes]
rs73417491	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73417502	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73417963	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73417971	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73417972	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73417996	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73417997	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73419414	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419417	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419418	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419422	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419436	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419447	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419461	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419907	1.00[ASN][1000 genomes]
rs73419916	1.00[ASN][1000 genomes]
rs73419919	1.00[ASN][1000 genomes]
rs73419938	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73419941	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73419944	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73419945	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73419946	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73419947	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73419949	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73419959	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73419960	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73419963	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73419971	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73421427	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421433	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421436	0.90[EUR][1000 genomes]
rs73421439	0.90[EUR][1000 genomes]
rs73421444	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421455	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421464	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73421467	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421473	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421477	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421479	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421483	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421810	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs752110	0.84[EUR][1000 genomes]
rs9470765	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1018711	chr6:37813397-37981590	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37850600-37865800	Weak transcription	HSMMtube	muscle
2	chr6:37850600-37869200	Weak transcription	Lung	lung
3	chr6:37850600-37890400	Weak transcription	Primary B cells from cord blood	blood
4	chr6:37851000-37866000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:37851000-37868800	Weak transcription	Ovary	ovary
6	chr6:37851000-37869200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:37851000-37884600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:37856000-37871000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:37857200-37871200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:37857200-37871200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:37857200-37871400	Weak transcription	Aorta	Aorta
12	chr6:37857400-37871800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:37857600-37871800	Weak transcription	Right Atrium	heart
14	chr6:37857600-37871800	Weak transcription	Stomach Mucosa	stomach
15	chr6:37857600-37872200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:37857600-37886000	Weak transcription	Esophagus	oesophagus
17	chr6:37857600-37895400	Weak transcription	Pancreas	Pancrea
18	chr6:37858000-37877600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:37858200-37869400	Weak transcription	Left Ventricle	heart
20	chr6:37858200-37871200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:37862000-37871800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:37862000-37877000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:37862400-37877200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:37862400-37884000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr6:37862600-37868800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:37862600-37871800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr6:37862600-37882000	Weak transcription	Fetal Intestine Small	intestine
28	chr6:37862800-37871200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr6:37862800-37879000	Weak transcription	GM12878-XiMat	blood
30	chr6:37863800-37871200	Weak transcription	Liver	Liver
31	chr6:37864400-37866200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:37864400-37866200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr6:37864400-37866200	Enhancers	NH-A	brain
34	chr6:37864600-37865800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr6:37864600-37866200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr6:37864600-37866200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:37864600-37871200	Weak transcription	Small Intestine	intestine
38	chr6:37864600-37880800	Weak transcription	NHDF-Ad	bronchial
39	chr6:37864800-37865800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr6:37864800-37871000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:37865000-37865800	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr6:37865000-37866000	Enhancers	Primary T cells from cord blood	blood
43	chr6:37865000-37866000	Enhancers	Hela-S3	cervix
44	chr6:37865000-37866200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr6:37865000-37866200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr6:37865000-37866200	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr6:37865000-37866200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr6:37865000-37866200	Enhancers	K562	blood
49	chr6:37865000-37866400	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr6:37865200-37865800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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